L17I (p.Leu17Ile) variant of ACADVL (P49748)
L17I (p.Leu17Ile) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- gnomAD 17-7220033-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.21
- CADD 5.38
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available